Revel Score:
ENST00000311895 (MANE Select)
0.244
ENST00000389138
0.244
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947752C>A , CM000678.2:g.13947752C>A | GRCh38 |
| NC_000016.9:g.14041609C>A , CM000678.1:g.14041609C>A | GRCh37 |
| NC_000016.8:g.13949110C>A | NCBI36 |
| NG_011442.1:g.32596C>A , LRG_463:g.32596C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2294C>A | ENSP00000507912.1:p.Thr765Asn | |
| ENST00000683962.1:c.*1850C>A | ENSP00000506854.1:n.*1850C>A | |
| ENST00000311895.8:c.2156C>A MANE Select | ENSP00000310520.7:p.Thr719Asn | |
| ENST00000311895.7:c.2156C>A | ENSP00000310520.7:p.Thr719Asn | |
| ENST00000389138.7:n.1433C>A | ||
| ENST00000462862.1:c.469C>A | ENSP00000461322.1:n.469C>A | |
| NM_005236.2:c.2156C>A , LRG_463t1:c.2156C>A | NP_005227.1:p.Thr719Asn | |
| XM_011522424.1:c.2294C>A | XP_011520726.1:p.Thr765Asn | |
| XM_011522425.1:c.1613C>A | XP_011520727.1:p.Thr538Asn | |
| XM_011522426.1:c.1367C>A | XP_011520728.1:p.Thr456Asn | |
| XM_011522427.1:c.806C>A | XP_011520729.1:p.Thr269Asn | |
| XR_932805.1:n.2315C>A | ||
| XM_011522424.3:c.2294C>A | XP_011520726.1:p.Thr765Asn | |
| XM_017023043.2:c.1367C>A | XP_016878532.1:p.Thr456Asn | |
| NM_005236.3:c.2156C>A MANE Select | NP_005227.1:p.Thr719Asn |